The specific symptoms and severity of pentalogy of Cantrell can vary dramatically from one person to another. Some infants may have mild defects with incomplete expression of the disorder. Other infants may have serious, life-threatening complications. It is important to note that affected individuals will not necessarily have all of the symptoms discussed below. Parents of caregivers of individuals with this condition should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.
The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. Ectopia cordis is a severe condition in which the heart is completely or partially displaced outside of the thoracic cavity and therefore not protected by the chest wall. Ectopia cordis is frequently, but not always associated with pentalogy of Cantrell.
Omphalocele is an abdominal wall defect in which part of an infant’s intestines and abdominal organs protrude or stick out through the bellybutton. The intestines and organs are covered by a thin membrane or sac. An omphalocele may be small, in which the intestines protrude, or large, in which both intestines and abdominal organs protrude.
In some cases, omphalocele may not be present. Other forms of abdominal wall defects that can occur in pentalogy of Cantrell include wide separation (diastasis) of certain abdominal muscles or, less frequently, the intestines may protrude through a defect to either side of the umbilical cord (gastroschisis).
Abnormalities affecting the sternum can range from complete absence of the cartilage prominence at the end of the sternum (xiphoid) to complete absence of the sternum. In some cases, the sternum may be cleft or abnormally short.
Defects of the thin membranous, fluid-filled sac that lines the heart (pericardium) may occur in pentalogy of Cantrell, specifically in the lower portion where it meets the diaphragm. Affected infants may also have a hole in the diaphragm allowing the contents of the abdomen to protrude into the chest (congenital diaphragmatic hernia).
Infants with pentalogy of Cantrell can have a wide variety of congenital heart defects including a “hole in the heart” between the two lower chambers (ventricles) of the heart (ventricular septal defects), a “hole in the heart” between the two upper chambers (atria) of the heart (atrial septal defects), abnormal location of the heart on the right side of chest instead of the left (dextrocardia), and tetralogy of Fallot, a condition in which four anatomical defects of the heart occur together. (For more information on these heart defects, choose the specific name as your search term in the Rare Disease Database.) Other complex congenital heart abnormalities may also be identified. The type and severity of congenital heart defects can vary from one infant to another.
The various defects potentially associated with pentalogy of Cantrell can cause a wide variety of serious issues including underdevelopment of the lungs, breathing (respiratory) difficulties, embolism (plugged blood vessel), and impaired function of the heart. Infants with pentalogy of Cantrell are at risk of developing widespread internal infection of the abdominal cavity.
Additional anomalies have been reported in some infants with pentalogy of Cantrell. Such anomalies include cleft lip, cleft palate, malformation (dysplasia) of the kidneys, a fluid-filled mass or sac in the head or neck area (cystic hygroma), limb defects (club feet, absent Bones in the arms or legs) and birth defects of the brain and spinal cord (neural tube defects).